Aliases: HOAT4, OAT4, OAT7, UST3H, ust3
Chromosome No: 11
Chromosome Band: 11q12.3
Genetic Category: Rare single gene variant-
ASD Reports: 3
Recent Reports: 1
Annotated variants: 2
Associated CNVs: 2
Evidence score: 2
Relevance to Autism
Two de novo variants (a missense variant and a synonymous variant predicted in PMID 26938441 to affect splicing regulation by altering an exonic splicing regulator) were observed in the SLC22A9 gene in ASD probands from the Simons Simplex Collection (Sanders et al., 2012; O'Roak et al., 2012). Evaluation of the statistical significance of observing multiple functional de novo variants in this gene, taking into account gene length and local sequence context to determine the expected number of variants, generated a p-value of 6.35E-04 (Takata et al., 2016).
This gene encodes for a sodium-independent organic anion transporter which exhibits high specificity for sulfated conjugates of xenobiotics and steroid hormones.